Faculty of Medicine,
University of Colombo,
Kynsey Road, Colombo 8,
Sri Lanka
Phone: 94 -1-695300 ext 307, 308
Fax: 94-1-691581
Email: anatomy@infolanka.com

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The HUMAN GENETICS UNIT

The VIRTUAL CLASSROOM
(Local access only available at the Anatomy Department Resource Centre)

BASIC MEDICAL GENETICS & CLINICAL GENETICS COURSES : OBJECTIVES

Students should know:

  1. the structure of genes, their organization, function, control and how they segregate.
  2. how genes are organized into chromosomes, how they replicate in mitosis and meiosis and their transmission from parent to child.
  3. the nature of mutations and how they contribute to human variability and to disease.
  4. the process of gametogenesis in the two sexes, the differences in the sexes and their clinical implications.
  5. the process of sex determination, abnormal sexual development, and the implications of dosage compensation in disease.
  6. the basis of common cytogenetic diagnostic techniques and their use in the detection of chromosome aberrations - structural and numerical.
  7. the clinical manifestations of common numeric, structural and mosaic chromosome anomalies.
  8. the concept and clinical importance of genetic imprinting and uni-parental disomy.
  9. the patterns of inheritance of autosomal dominant, autosomal recessive, X linked recessive and X linked dominant. Should be familiar with clinical examples in each category.
  10. the factors that affect the development of the phenotype in single gene disorders, including variable expressivety and penetrance.
  11. the structure and organization of mitochondrial DNA, the basis of mitochondrial disease and their patterns of inheritance.
  12. the basis of common techniques in molecular biology and their applications in diagnosis.
  13. the principles of multifactorial inheritance with examples of normal and abnormal human traits.
  14. the basic principles of inborn errors of metabolism and of pharmacogentic variations and their general clinical manifestations.
  15. the role of genetics in the pathogenesis of neoplasms and in the predisposition to malignancies.
  16. how to recognize and classify congenital anomalies.
  17. the basis of dermatoglyphics and their variation in health and disease with special reference to their patterns in common disorders.
  18. the mechanisms of teratogenesis and mutagenesis and the effects of major human teratogens and mutagens.
  19. the blood groups and HLA. Their basis of inheritance and their role in diagnosis and determination of paternity.
  20. the use of polymorphisms, linkage and gene mapping in medicine.
  21. the principles of population genetics and the public health implications of genetic epidemiology.
  22. the sources and hazards of radiation and their implications in birth defects.
  23. the role of consanguinity in genetic disease.
  24. the procedures available for prenatal diagnosis in Sri Lanka and in other countries and what diseases can be diagnosed using these methods, their individual advantages and limitations.
  25. to carry out a comprehensive physical examination, construct a pedigree and be able to order relevant specialized genetic investigations, comment on the results and make a diagnosis and evaluation of the condition.
  26. the specialized services available including those of community social organizations and the use of the health service structure to enable the patient to receive the best available care and management.
  27. the basis of genetic counselling and the counselling of common conditions prevalent in Sri Lanka.
  28. the uses, limitations and ethical implications of International Population Screening Programmes.